Inactivating BARD1 Gene Mutation

Preferred Label : Inactivating BARD1 Gene Mutation;

NCIt synonyms : Inactivating BARD-1 Gene Mutation; Inactivating BARD1 Mutation; BARD1 Inactivating Mutation; BARD1 Loss of Function Gene Mutation; BARD1 Loss of Function Mutation; BARD1 Gene Inactivation; Inactivating BRCA1 Associated RING Domain 1 Gene Mutation; BARD1 Inactivating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BARD1 gene that either inhibits expression or results in the translation of an inactive BRCA1-associated RING domain protein 1.;

NCI Metathesaurus CUI : CL1661972;

Details

Origin ID

C179340;

UMLS CUI

C5555623;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- BARD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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